Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6361674C>T , CM000681.2:g.6361674C>T | GRCh38 |
| NC_000019.9:g.6361685C>T , CM000681.1:g.6361685C>T | GRCh37 |
| NC_000019.8:g.6312685C>T | NCBI36 |
| NG_033887.1:g.5223C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245816.11:c.100C>T MANE Select | ENSP00000245816.3:p.Pro34Ser | |
| ENST00000245816.8:c.100C>T | ENSP00000245816.3:p.Pro34Ser | |
| ENST00000594780.1:n.1C>T | ||
| ENST00000596070.1:n.110C>T | ||
| NM_006012.2:c.100C>T | NP_006003.1:p.Pro34Ser | |
| NM_006012.3:c.100C>T | NP_006003.1:p.Pro34Ser | |
| NM_006012.4:c.100C>T MANE Select | NP_006003.1:p.Pro34Ser |